palmoplantar keratoderma-esophageal carcinoma syndrome - Ontology Report

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	palmoplantar keratoderma-esophageal carcinoma syndrome	go back to main search page
Accession:	DOID:0111506	browse the term
Definition:	A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in the RHBDF2 gene on chromosome 17q25.1. (DO)
Synonyms:	exact_synonym:	Bennion-Patterson syndrome; Howell Evans syndrome; TOC; keratosis palmaris et plantaris with esophageal cancer; keratosis palmoplantaris with esophageal cancer; keratosis palmoplantaris-esophageal carcinoma syndrome; palmoplantar hyperkeratosis-esophageal carcinoma syndrome; palmoplantar keratoderma with esophageal cancer; tylosis with esophageal cancer; tylosis-oesophageal carcinoma syndrome
	primary_id:	MESH:C536164
	alt_id:	OMIM:148500
	xref:	GARD:3102; ORDO:2198

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Genes (1)

palmoplantar keratoderma-esophageal carcinoma syndrome

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Rhbdf2

rhomboid 5 homolog 2

ISO
ISS

ClinVar Annotator: match by term: Palmoplantar keratoderma-esophageal carcinoma syndrome
CTD Direct Evidence: marker/mechanism
OMIM:148500

OMIM
ClinVar
CTD
MouseDO

PMID:8508402 PMID:13209063 PMID:22265016 PMID:22638770 PMID:25741868 More...

NCBI chr10:101,833,157...101,860,283
Ensembl chr10:101,833,157...101,860,283

Term paths to the root

Path 1
Term	Annotations
disease	21122
syndrome	10725
palmoplantar keratoderma-esophageal carcinoma syndrome	1
Path 2
Term	Annotations
disease	21122
disease of anatomical entity	18162
nervous system disease	14004
Neurologic Manifestations	9984
sensory system disease	6884
skin disease	3904
Genetic Skin Diseases	1838
palmoplantar keratosis	44
palmoplantar keratoderma-esophageal carcinoma syndrome	1

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InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

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Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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RGD DISEASE ONTOLOGY - ANNOTATIONS